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DNA Repair-Deficiency Disorders: Understanding the Impact on Health 1. Introduction DNA repair-deficiency disorders are a group of genetic conditions characterized by the body’s inability to effectively repair damaged DNA. This impairment can lead to a range of health issues, including an increased risk of cancer, neurodegenerative diseases, and immune system dysfunction. 2. Symptoms Common symptoms…
Understanding Carbohydrate Metabolism, Inborn Errors: Symptoms, Causes, Diagnosis, Treatment, and Coping Strategies Introduction Carbohydrate metabolism in the human body is a complex process that involves the breakdown and utilization of carbohydrates for energy. Inborn errors of carbohydrate metabolism are rare genetic disorders that affect this process, leading to various health complications. Symptoms The symptoms of…
Congenital Abnormalities: Understanding, Coping, and Living Introduction Congenital abnormalities, also known as birth defects, are structural or functional anomalies that occur during intrauterine life and can be identified prenatally, at birth, or later in life. These abnormalities can affect any part of the body and may have a profound impact on a person’s health and…
Understanding Cholesteryl Ester Storage Disease: Symptoms, Causes, Diagnosis, Treatment, and Living with the Condition Introduction Cholesteryl Ester Storage Disease (CESD) is a rare genetic disorder that affects the body’s ability to break down certain fats. It is a part of a group of disorders known as lysosomal storage diseases. In individuals with CESD, a specific…
Congenital Erythropoietic Porphyria: Understanding the Rare Genetic Disorder Introduction Congenital Erythropoietic Porphyria (CEP) is a rare genetic disorder that affects the body’s ability to produce heme, an essential component of hemoglobin. It is a type of porphyria, a group of disorders caused by abnormalities in the production of heme. CEP is characterized by the accumulation…
Beta-galactosidase-1 Deficiency: Understanding the Symptoms, Causes, Diagnosis, Treatment, and Living with the Condition Introduction Beta-galactosidase-1 deficiency, also known as GM1 gangliosidosis, is a rare genetic disorder that affects the body’s ability to break down certain substances in nerve cells. This condition is caused by a deficiency of the beta-galactosidase enzyme, which is essential for the…
Beta Ketothiolase Deficiency: Understanding the Symptoms, Causes, Diagnosis, and Treatment 1. Introduction Beta Ketothiolase Deficiency is a rare genetic disorder that affects the body’s ability to break down certain fats and proteins. This condition, also known as mitochondrial acetoacetyl-CoA thiolase (T2) deficiency, falls under the category of organic acidemias, a group of metabolic disorders. 2….
Understanding Andersen-Tawil Syndrome: Symptoms, Causes, Diagnosis, Treatment, and Coping Strategies 1. Introduction Andersen-Tawil Syndrome (ATS) is a rare genetic disorder that affects multiple parts of the body, including the heart, muscles, and development. This condition is characterized by a specific set of symptoms and is often diagnosed in childhood or adolescence. ATS is also known…
Aromatic L-amino Acid Decarboxylase Deficiency: Understanding the Rare Disorder 1. Introduction Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that affects the nervous system. It is characterized by the brain’s inability to produce certain neurotransmitters, leading to a range of neurological and developmental symptoms. 2. Symptoms People with AADC deficiency may experience…
Understanding Arginase Deficiency: Symptoms, Causes, Diagnosis, Treatment, and Coping Strategies 1. Introduction Arginase deficiency is a rare genetic disorder that affects the urea cycle, a process that removes ammonia from the body. This condition is caused by a mutation in the ARG1 gene, which leads to a deficiency of the arginase enzyme. As a result,…